Gorlin Cohen, syndrome
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(frontometaphyseal dysplasia)
Very rare. Cranio-tubular bone disease. X-linked dominant transmission of a mutation in the FLNA gene on Xq28, coding for filamin a.
Clinical signs:
- prominent supraorbital edges (hyperostosis); hypertelorism with downslanting palpebral fissure, micrognathia, broad nasal root
- dental anomalies with malocclusion
- skeletal dysplasia: large occipital foramen , often associated with anomalies of the cervical vertebrae, scoliosis, fusion of the carpal bones, absence of modelling of the metaphyseal zone of the long bones ( 'Erlenmeyer flask-shaped' tibia and femur)
- progressive contracture of the joints with atrophy of the muscles of the hands, arms and legs
- progressive sensorineural deafness
- sometimes: mental retardation, heart defect, subglottic stenosis
Anesthetic implications:
Preoperative echocardiography, difficult intubation, hearing-impaired child
References :
- Mehta Y, Schou H.
The anaesthetic management of an infant with frontometaphyseal dysplasia (Gorlin Cohen syndrome).
Acta Anaesthesiol Scand 1988 ; 32 : 505-7.
- Ganigara A, Nishtala M, Chandrika YRV, Chandrakala KR.
Airway management of a child with frontometaphyseal dysplasia (Gorlin Cohen syndrome).
Indian J Anaesth 2014; 30: 297-8.
Updated: April 2019